期刊
CALCIFIED TISSUE INTERNATIONAL
卷 87, 期 1, 页码 14-24出版社
SPRINGER
DOI: 10.1007/s00223-010-9361-4
关键词
MTHFR; LCT; LRP6; Association study; BMD; Fracture
资金
- Catalan government [2005SGR 00848, 2009SGR971]
- Carlos III Health Institute (ISCIII)
- Spanish Ministry of Science and Innovation [PI030708]
- Spanish Ministry of Education and Science [SAF2007-64654]
- Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER)
- Red Tematica de Investigacion Cooperativa en Envejecimiento y Fragilidad (RETICEF)
Osteoporosis is a complex disease involving many putative genetic factors. Association analysis of functional SNPs in candidate genes is an important tool for their identification. However, this approach is affected by limited power, population stratification, and other drawbacks that lead to discordant results. Replication in independent cohorts is essential. We performed association analyses of three functional polymorphisms previously associated with bone phenotypes-namely, Ala222Val in MTHFR, Ile1062Val in LRP6, and -13910C > T in LCT-in a cohort of 944 postmenopausal Spanish women, all of them with lumbar spine (LS) bone mineral density (BMD) data and most with femoral neck (FN) BMD and fracture data. We found significant differences between genotypes only for the MTHFR polymorphism and vertebral factures, with an OR of 2.27 (95% CI 1.17-4.38) for the TT vs. CC/CT genotypes, P = 0.018. We present genotype and allele frequency data for LCT -13910C > T for a Spanish population, where the T allele (conferring lactase persistence) has a frequency of 38.6%. Genotype frequencies were consistent with observed clines in Europe and with the prevalence of lactase nonpersistence. The LCT -13910C > T polymorphism was significantly associated with height and weight, such that T allele carriers were 0.88 cm taller (95% CI 0.08-1.59 cm, P = 0.032, adjusted by age) than CC individuals and TT homozygotes were 1.91 kg heavier than CC/CT individuals (95% CI 0.11-3.71 kg, P = 0.038, adjusted by age). In conclusion, no significant association was observed between the studied polymorphisms and LS BMD or FN BMD in postmenopausal Spanish women, and only MTHFR Ala222Val was associated with vertebral fractures.
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